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  • 1-3 of  3 results for ""Harel, Tamar""

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Academic Journal

Intellectual disability syndrome associated with a homozygous founder variant in SGSM3 in Ashkenazi Jews.

  • Authors : Birnbaum R; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.; Ezer S

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Neurodevelopmental Disorders*; Humans

  • Source: Journal of medical genetics [J Med Genet] 2024 Feb 21; Vol. 61 (3), pp. 289-293. Date of Electronic Publication: 2024 Feb 21.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.

  • Authors : Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK .; Efthymiou S

Subjects: Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/pathology

  • Source: Journal of medical genetics [J Med Genet] 2023 Aug; Vol. 60 (8), pp. 791-796. Date of Electronic Publication: 2022 Dec 29.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

De novo variants in SIAH1, encoding an E3 ubiquitin ligase, are associated with developmental delay, hypotonia and dysmorphic features.

  • Authors : Buratti J; Département de Génétique, Hôpital Pitié-Salpêtrière, Assistance publique-Hôpitaux de Paris, Paris, France.; Ji L

Subjects: Genetic Predisposition to Disease*; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics ; Muscle Hypotonia/Muscle Hypotonia/Muscle Hypotonia/*genetics

  • Source: Journal of medical genetics [J Med Genet] 2021 Mar; Vol. 58 (3), pp. 205-212. Date of Electronic Publication: 2020 May 19.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet

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  • 1-3 of  3 results for ""Harel, Tamar""